The amino acid substitutions of human α1‐antitrypsin M3, X and Z
- 25 April 1988
- journal article
- research article
- Published by Wiley in FEBS Letters
- Vol. 231 (2) , 327-330
- https://doi.org/10.1016/0014-5793(88)80843-3
Abstract
α1-Antitrypsin has been isolated from individuals with inherited genetic variants M3, X and Z. A fragmentation and peptide mapping system is described which together with amino acid and sequence analyses revealed the substitutions in M3 at 376 of Glu to Asp, in X at 204 of Glu to Lys and in the physiologically innocent Z a mutation at 213 of Val to Ala. The latter represents a second amino acid substitution in the Z protein.Keywords
This publication has 16 references indexed in Scilit:
- Characterization of the M1(Ala213) type of .alpha.1-antitrypsin, a newly recognized, common "normal" .alpha.1-antitrypsin haplotypeBiochemistry, 1987
- α1-Antitrypsin Christchurch, 363 Glu → Lys: mutation at the P′5 position does not affect inhibitory activityBiochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1986
- Human Z α1‐antitrypsin accumulates intracellularly and stimulates lysosomal activity when synthesised in the Xenopus oocyteFEBS Letters, 1985
- The isolation of a clone for human α 1-antitrypsin and the detection of α 1-antitrypsin in mRNA from liver and leukocytesBiochemical and Biophysical Research Communications, 1983
- Mutation of Antitrypsin to AntithrombinNew England Journal of Medicine, 1983
- Structure and variation of human α1–antitrypsinNature, 1982
- Sequence homology and structural comparison between the chromosomal human α1-antitrypsin and chicken ovalbumin genesNature, 1982
- Human α1‐antitrypsin: carbohydrate attachment and sequence homologyFEBS Letters, 1981
- Amino acid substitution Glu→Lys in α1‐antitrypsin PiZFEBS Letters, 1976
- Pulmonary Emphysema and Alpha1‐Antitrypsin DeficiencyActa Medica Scandinavica, 1964